Canonical Allele Identifier: CA413252270

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405292C>T , CM000685.2:g.53405292C>T	GRCh38
NC_000023.10:g.53432224C>T , CM000685.1:g.53432224C>T	GRCh37
NC_000023.9:g.53448949C>T	NCBI36
NG_006988.2:g.22379G>A , LRG_773:g.22379G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006306.4:c.2011G>A MANE Select	NP_006297.2:p.Val671Ile
ENST00000322213.9:c.2011G>A MANE Select	ENSP00000323421.3:p.Val671Ile
NM_001281463.1:c.1945G>A , LRG_773t1:c.1945G>A	NP_001268392.1:p.Val649Ile
NM_006306.3:c.2011G>A , LRG_773t2:c.2011G>A	NP_006297.2:p.Val671Ile
ENST00000322213.8:c.2011G>A	ENSP00000323421.3:p.Val671Ile
ENST00000375340.10:c.1945G>A	ENSP00000364489.7:p.Val649Ile
ENST00000674590.1:c.1243G>A	ENSP00000502626.1:p.Val415Ile
ENST00000675065.1:n.1363G>A
ENST00000675504.1:c.1945G>A	ENSP00000502524.1:p.Val649Ile